Detalhe da pesquisa
1.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cerebellum
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622473
2.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
3.
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
Eur J Pediatr
; 183(3): 1341-1351, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141137
4.
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Ann Hum Genet
; 87(3): 104-114, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575883
5.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
6.
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort.
Tohoku J Exp Med
; 261(3): 179-185, 2023 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635061
7.
Investigation of sub-chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis.
Andrologia
; 54(9): e14489, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35672008
8.
A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
J Gene Med
; 23(2): e3307, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368912
9.
SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.
Neurol Sci
; 41(9): 2575-2584, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32249332
10.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
11.
First cardiac manifestation of hypotonia-cystinuria syndrome.
Metab Brain Dis
; 33(4): 1375-1379, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29627929
12.
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Mol Syndromol
; 15(2): 130-135, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585541
13.
Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort.
Clin Chim Acta
; 555: 117793, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38309554
14.
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.
J Pediatr Endocrinol Metab
; 37(3): 271-275, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353247
15.
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.
Mol Syndromol
; 14(6): 498-503, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058750
16.
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
Acta Neurol Belg
; 123(5): 1757-1761, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35881308
17.
c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.
Noro Psikiyatr Ars
; 60(4): 380-384, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38077838
18.
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
Turk J Pediatr
; 65(6): 1012-1017, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38204320
19.
ALG11-CDG: novel variant and review of the literature.
J Pediatr Endocrinol Metab
; 36(4): 409-413, 2023 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843332
20.
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.
Mol Syndromol
; 14(1): 30-34, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36777709